HPP
MCID: PYR011
MIFTS: 35

Pyropoikilocytosis (HPP) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis

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Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 52 12
Hereditary Pyropoikilocytosis 48 24 70 27 68
Hpp 24 70
 
Pyropoikilocytosis, Hereditary 50
Pyropoikilocytosis Hereditary 48

Characteristics:

HPO:

64
pyropoikilocytosis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266140
MedGen37 C0520739

Summaries for Pyropoikilocytosis

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OMIM:52 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hypophosphatasia and hereditary elliptocytosis, and has symptoms including hemolytic anemia, elliptocytosis and microspherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways are Transport to the Golgi and subsequent modification and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include testes.

UniProtKB/Swiss-Prot:70 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia:71 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis

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Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia11.6
2hereditary elliptocytosis10.3
3hereditary spherocytosis9.9
4spherocytosis, type 39.8SPTA1, SPTB
5hepatitis b9.8SPTA1, SPTB
6pancreatitis9.8
7psoriasis9.8
8kernicterus9.8SPTA1, SPTB
9malaria9.8
10hemolytic anemia9.8
11congenital hemolytic anemia9.8
12vagus nerve neoplasm9.7SPTA1, SPTB

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms & Phenotypes for Pyropoikilocytosis

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Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

Human phenotypes related to Pyropoikilocytosis:

 64
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia64 HP:0001878
2 elliptocytosis64 HP:0004445
3 microspherocytosis64 HP:0004835
4 pyropoikilocytosis64 HP:0004839

Drugs & Therapeutics for Pyropoikilocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

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Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis27 24 SPTA1

Anatomical Context for Pyropoikilocytosis

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MalaCards organs/tissues related to Pyropoikilocytosis:

36
Testes

Publications for Pyropoikilocytosis

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Articles related to Pyropoikilocytosis:

(show all 40)
idTitleAuthorsYear
1
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. (27667160)
2016
2
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
3
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
4
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
5
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
6
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
7
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
8
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
9
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
10
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
11
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
12
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
13
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
14
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
15
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
16
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
17
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
18
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
19
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
20
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
21
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
22
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
23
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
24
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
25
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
26
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
27
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
28
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
29
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
30
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
31
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
32
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
33
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
34
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
35
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
36
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
37
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
38
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
39
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
40
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Variations for Pyropoikilocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

70
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335rs121918644
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPTBNM_ 001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)SNVPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_ 003126.2(SPTA1): c.135G> T (p.Arg45Ser)SNVPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_ 003126.2(SPTA1): c.82C> A (p.Arg28Ser)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_ 003126.2(SPTA1): c.82C> T (p.Arg28Cys)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_ 003126.2(SPTA1): c.83G> A (p.Arg28His)SNVPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_ 003126.2(SPTA1): c.620T> C (p.Leu207Pro)SNVPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_ 003126.2(SPTA1): c.143A> G (p.Lys48Arg)SNVPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1NM_ 003126.2(SPTA1): c.2806-13T> GSNVPathogenicrs757147440GRCh37Chr 1, 158626459: 158626459
9SPTA1SPTA1, IVS22DS, G-A, +5SNVPathogenic

Expression for genes affiliated with Pyropoikilocytosis

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Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

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GO Terms for genes affiliated with Pyropoikilocytosis

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Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:00156299.7SPTA1, SPTB
2cell cortexGO:00059389.5SPTA1, SPTB
3intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.4SPTA1, SPTB
4spectrinGO:00080919.3SPTA1, SPTB
5spectrin-associated cytoskeletonGO:00147319.1SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:00516939.8SPTA1, SPTB
2axon guidanceGO:00074119.8SPTA1, SPTB
3ER to Golgi vesicle-mediated transportGO:00068889.8SPTA1, SPTB
4MAPK cascadeGO:00001659.8SPTA1, SPTB
5positive regulation of GTPase activityGO:00435479.1SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.8SPTA1, SPTB
2actin filament bindingGO:00510159.7SPTA1, SPTB
3Ras guanyl-nucleotide exchange factor activityGO:00050889.7SPTA1, SPTB
4structural constituent of cytoskeletonGO:00052009.1SPTA1, SPTB

Sources for Pyropoikilocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet